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Putting science over supposition in the arena of personalized genomics

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Colleen McBride and colleagues argue that progress on a multifaceted research agenda is necessary to reap the full benefits and avoid the potential pitfalls of the emerging area of personalized genomics. They also outline one element of this agenda, the Multiplex Initiative, which has been underway since 2006.

Abstract

We explore the process of going from genome discovery to evaluation of medical impact and discuss emerging challenges faced by the scientific community. The need to confront these challenges is heightened in a climate where unregulated genetic tests are being marketed directly to the general public1,2. Specifically, we characterize the delicate balance involved in deciding when genomic discoveries such as gene-disease associations are 'ready' to be evaluated as potential tools to improve health. We recommend that a considerable research commitment be made now in order to successfully bridge the rapidly widening gap between gene-disease association research and the critical (but slower and more involved) investigations into public health and clinical utility. Lastly, we describe a large, ongoing, early-phase research project, the Multiplex Initiative, which is examining issues related to the utility of genetic susceptibility testing for common health conditions.

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Authors and Affiliations

  1. Colleen M. McBride is at the Social and Behavioral Research Branch, National Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.,

    Colleen M McBride

  2. Sharon Hensley Alford is at the Henry Ford Hospital, Detroit, Michigan 48202, USA.,

    Sharon Hensley Alford

  3. Robert J. Reid and Eric B. Larson are at the Center for Health Studies, Group Health Cooperative, Seattle, Washington 98101, USA.,

    Robert J Reid & Eric B Larson

  4. Andreas D. Baxevanis and Lawrence C. Brody are at the Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.,

    Andreas D Baxevanis & Lawrence C Brody

Authors
  1. Colleen M McBride
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  2. Sharon Hensley Alford
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  3. Robert J Reid
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  4. Eric B Larson
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  5. Andreas D Baxevanis
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  6. Lawrence C Brody
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Corresponding authors

Correspondence to Colleen M McBride or Lawrence C Brody.

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McBride, C., Alford, S., Reid, R. et al. Putting science over supposition in the arena of personalized genomics. Nat Genet 40, 939–942 (2008). https://doi.org/10.1038/ng0808-939

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  • DOI: https://doi.org/10.1038/ng0808-939

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